Disease #00765 (CLS (Coffin-Lowry syndrome (CLS)), OMIM:303600)

Official abbreviation CLS
Name Coffin-Lowry syndrome (CLS)
OMIM ID 303600
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene RPS6KA3
Associated tissues -
Disease features X-linked dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00435246 RPS6KA3 - - M no Germany - - - - - CLS Neurodevelopmental delay, Hypotonia, Hyporeflexia, Large fontanelles, Hypoplasia of the corpus callosum RPS6KA3 RPS6KA3 1 1 Andreas Laner
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